Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants.

ABSTRACT:

Introduction

WT1 missense mutation in exon 8 or 9 causes infantile nephrotic syndrome with early progression to end-stage kidney disease (ESKD), Wilms tumor, and 46,XY female. However, some patients with missense mutations in exon 8 or 9 progress to ESKD in their teens or later. Therefore, we conducted a systematic review and functional analysis of WT1 transcriptional activity.

Methods

We conducted a systematic review of 174 cases with WT1 exon 8 or 9 missense variants from our cohort (n=13) and previous reports (n=161). Of these cases, mild and severe genotypes were selected for further in vitro functional analysis using luciferase assay.

Results

The median age of developing ESKD was 1.17 years. A comparative study was conduc

SUBMITTER: Nagano C 

PROVIDER: S-EPMC8343804 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature